Tay-Sachs Disease

Tay Sachs disease is a neurodegenerative disorder due to β-hexosaminidase A deficiency caused by mutations in the HEXA gene. Discover the latest research on Tay-Sachs disease here.

September 22, 2020
Open Access

GM2 ganglioside accumulation causes neuroinflammation and behavioral alterations in a mouse model of early onset Tay-Sachs disease

Journal of Neuroinflammation
Seçil Akyıldız DemirVolkan Seyrantepe
August 28, 2020
Open Access

Moving Genomics to Routine Care: An Initial Pilot in Acute Cardiovascular Disease

Circulation. Genomic and Precision Medicine
Zahra AryanDana Vuzman
July 29, 2020

Magnetic and electronic properties of 2D TiX3 (X = F, Cl, Br and I)

Physical Chemistry Chemical Physics : PCCP
Jiazhong GengHui Pan
September 2, 2020
Open Access

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies

International Journal of Molecular Sciences
Andres Felipe LealAngela J Espejo-Mojica
July 29, 2020
Open Access

Influence of the second layer on geometry and spectral properties of doped two-dimensional hexagonal boron nitride

Journal of Molecular Modeling
Michał ChojeckiTatiana Korona
August 5, 2020
Open Access

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects and Current Therapies

Andres Felipe LealAngela J Espejo-Mojica
October 3, 2020
Open Access

Lysosomal Diseases and Neuropsychiatry: Opportunities to Rebalance the Mind

Frontiers in Molecular Biosciences
Timothy M Cox
September 25, 2020
Case Report
Open Access

Whole exome sequencing reveals a homozygous nonsense mutation in HEXA gene leading to Tay-Sachs disease in Saudi Family

Pakistan Journal of Medical Sciences
Muhammad Imran NaseerMohammad H Al-Qahtani
November 30, 2020

Partitioned Survival and State Transition Models for Healthcare Decision Making in Oncology: Where Are We Now?

Value in Health : the Journal of the International Society for Pharmacoeconomics and Outcomes Research
Beth S WoodsMarta Soares
January 12, 2021
Case Report

Late-Onset Tay-Sachs Disease in an Irish Family

Movement Disorders Clinical Practice
Stela LefterAisling M Ryan
October 6, 2020
Open Access

THAP9 transposase cleaves DNA via conserved acidic residues in an RNaseH-like domain

BioRxiv : the Preprint Server for Biology
V. SharmaSharmistha Majumdar
August 28, 2020
Open Access

Clinical utility of ultra-rapid whole-genome sequencing in an infant with atypical presentation of WT1 -associated nephrotic syndrome type 4

Cold Spring Harbor Molecular Case Studies
Erica SanfordStephen F Kingsmore
November 18, 2020
Open Access

The Activity of N-acetyl-β-hexosaminidase in the Blood, Urine, Cerebrospinal Fluid and Vitreous Humor Died People Due to Alcohol Intoxication

Journal of Clinical Medicine
Iwona Ptaszyńska-SarosiekNapoleon Waszkiewicz
August 10, 2020
Comment / Editorial
Open Access

Is rapid exome sequencing standard of care in the NICU and PICU?

The Journal of Pediatrics
Stephen F Kingsmore
January 11, 2021

Macular cherry red spot: A case of Tay-Sachs disease

Journal français d'ophtalmologie
E BertrandD Denis

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